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Rivista di Angiologia
Official Journal of the , the International Union of Phlebology and the
Indexed/Abstracted in: BIOSIS Previews, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
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International Angiology 2016 Aprile;35(2):205-11
Association of the five gene related endothelial cell dysfunction polymorphisms with Buerger’s disease development
Mitra MASOUDIAN 1, Bahare FAZELI 1, Hiva SHAREBIANI 2, Atta’ollah RAJABNEJAD 3, Hassan RAVARI 4, Mohammad M. AKBARIN 1, Maliheh DADGARMOGHADDAM 5 ✉
1 Inflammation and Inflammatory Diseases Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; 2 Student Research Committee, Faculty of Paramedical Sciences, Mashhad University of Medical Sciences, Mashhad, Iran; 3 Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; 4 Vascular and Endovascular Surgery Research Center, Emam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran; 5 Community Medicine Department, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
BACKGROUND: The aim of this study was to evaluate the impact of the polymorphisms of four genes related to vascular endothelium dysfunction on the development and outcome of Buerger’s disease (BD). The genes studied were eNOS-786 T>C, eNOS894 G>T, ET-1 8000 T>C, PAI-1 4G/5G and ACE I/D.
METHODS: Polymerase chain reaction and restriction fragment analysis were used to detect eNOS-786 T>C, eNOS894 G>T, ET-1 8000 T>C, PAI-1(4G/5G) and ACE(I/D) polymorphisms in 36 BD patients and 36 healthy individuals matched for race, age and gender. A decision tree for predicting BD was drawn using Rapidminer 5.3 software.
RESULTS: The frequency of eNOS-T786C alleles was significantly different between the BD group and the healthy controls (P<0.001, OR:6.1). The frequency of PAI-1(4G/5G) alleles was significantly different between the BD group and the healthy controls (P=0.005, OR:4.9). The frequency of eNOS G894T alleles was not statistically different between BD and the healthy controls (P=0.09). No significant difference between allele frequency of ACE(I/D) was found (P=0.07). There was, also, no significant difference between the allele frequency of ET-1 8000 T>C (P=0.1). In logistic regression analysis, the C allele for eNOS-786 and 4G/4G for PAI-1 were significant for predicting BD. According to the decision tree, the proportion of the current gene-polymorphisms likely to develop BD was calculated as maximum 27.7%.
CONCLUSIONS: It seems that eNOS-T786C, PAI-1(4G/5G) are important polymorphisms in developing BD. However, the decision tree might give confidence to the families of BD patients that if they maintain a healthy lifestyle, they may not develop BD.